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Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An

Harshita Agarwal1, Tathagata Jha2, Mohammad Orooj Azmi1

  • 1Institute of Post Graduate Medical Education and Research Kolkata West Bengal India.

Clinical Case Reports
|July 10, 2026
PubMed

Insights

This study reports the first case of Osteogenesis Imperfecta (OI) co-occurring with ambiguous genitalia in a 46,XY child. The genetic findings highlight the complex interplay between skeletal and gonadal development.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder affecting collagen, leading to bone fragility.
  • Disorders of Sex Development (DSD) in 46,XY individuals require thorough evaluation.
  • The coexistence of these conditions presents diagnostic and management challenges.

Purpose of the Study:

  • To report a unique case of a 6-year-old 46,XY child with OI and ambiguous genitalia.
  • To investigate the genetic underpinnings of the overlapping phenotypes.
  • To emphasize the importance of multidisciplinary care for complex pediatric cases.

Main Methods:

  • Clinical assessment including physical examination and endocrine evaluation.
  • Genetic analysis using karyotyping and whole-exome sequencing.
  • Review of patient's treatment and follow-up.

Main Results:

  • The patient presented with recurrent fractures, blue sclerae, short stature, and ambiguous genitalia.
  • Genetic analysis confirmed a pathogenic COL1A1 variant for OI and a CYP11A1 variant of uncertain significance.
  • Endocrine tests indicated primary gonadal dysgenesis with significantly reduced testosterone levels.

Conclusions:

  • This case represents the first documented instance of OI due to COL1A1 mutation and ambiguous genitalia in a 46,XY child.
  • The findings underscore the complexity of overlapping skeletal and gonadal phenotypes.
  • Longitudinal, multidisciplinary care is crucial for managing such complex conditions.

Keywords:
COL1A1CYP11A1ambiguous genitaliacase reportdisorders of sex developmentosteogenesis imperfecta

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